MCID: AMY037
MIFTS: 26

Amyloidosis, Hereditary Renal malady

Nephrological diseases, Bone diseases, Ear diseases, Genetic diseases categories

Summaries for Amyloidosis, Hereditary Renal

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

MalaCards: Amyloidosis, Hereditary Renal, also known as hereditary amyloid nephropathy, is related to umod-associated kidney disease and familial juvenile hyperuricaemic nephropathy. An important gene associated with Amyloidosis, Hereditary Renal is FGA (fibrinogen alpha chain). Affiliated tissues include kidney and bone.

Description from OMIM:46 105200

Aliases & Classifications for Amyloidosis, Hereditary Renal

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Nephrological diseases, Bone diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
hereditary amyloid nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

amyloidosis, hereditary renal 46
hereditary amyloid nephropathy 48 60
progressive hereditary glomerulonephritis without deafness 60
amyloidosis, familial visceral 60
familial amyloid nephropathy 48
hereditary renal amyloidosis 48
amyloidosis, ostertag type 48
familial renal amyloidosis 48


External Ids:

OMIM46 105200
ICD10 via Orphanet26 E85.0

Related Diseases for Amyloidosis, Hereditary Renal

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Amyloidosis, Hereditary Renal:



Diseases related to amyloidosis, hereditary renal

Clinical Features for Amyloidosis, Hereditary Renal

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46OMIM
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Clinical features from OMIM:

105200

Clinical synopsis from OMIM:

105200

Drugs & Therapeutics for Amyloidosis, Hereditary Renal

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Amyloidosis, Hereditary Renal

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Anatomical Context for Amyloidosis, Hereditary Renal

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32MalaCards
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MalaCards organs/tissues related to Amyloidosis, Hereditary Renal:

32
Kidney, Bone

Animal Models for Amyloidosis, Hereditary Renal or affiliated genes

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Publications for Amyloidosis, Hereditary Renal

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Genetic Variations for Amyloidosis, Hereditary Renal

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Amyloidosis, Hereditary Renal:

62
id Symbol AA change Variation ID SNP ID
1APOA1p.Gly50ArgVAR_000609rs28931574
2APOA1p.Leu84ArgVAR_000610
3FGAp.Glu545ValVAR_010731
4FGAp.Arg573LeuVAR_010732
5LYZp.Ile74ThrVAR_004280
6LYZp.Asp85HisVAR_004281

Expression for genes affiliated with Amyloidosis, Hereditary Renal

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyloidosis, Hereditary Renal

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Pathways for genes affiliated with Amyloidosis, Hereditary Renal

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Compounds for genes affiliated with Amyloidosis, Hereditary Renal

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GO Terms for genes affiliated with Amyloidosis, Hereditary Renal

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Products for genes affiliated with Amyloidosis, Hereditary Renal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis, Hereditary Renal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet